Evaluation of Fetal Bladder Emptying During the 11-14 Weeks' Ultrasound Examination as a Negative Predictive Marker for Chromosomal Abnormalities

NCT07165743 | Active Not Recruiting

• 1 other identifier: HasekiTRH 27.08.2025 155-2025
• Study Type: observational
• Target: 270
• Locations: 1 country
• Sites: 1

Brief Summary

Template-Based Brief Summary (Sağlık Profesyonelleri İçin) Study Title: The Negative Predictive Value of First-Trimester Fetal Bladder "Rapid Emptying" (≤40 minutes and post-void ≤2 mm) for Major Chromosomal Aneuploidies: A Prospective Diagnostic Accuracy Study. Purpose: To evaluate whether the dynamic phenotype of rapid bladder emptying at 11-14 weeks reduces the likelihood of major chromosomal abnormalities (particularly Trisomy 21) compared to fetuses without this phenotype. Design: Single-center, prospective observational cohort. Population: 270 singleton pregnancies between 11+0 and 14+0 weeks. Procedures: Real-time sagittal ultrasound observation for 40 minutes. Documentation of bladder emptying time and post-void longitudinal bladder diameter. Concurrent measurement of CRL, NT, ductus venosus waveform. Gold standard confirmation with cfDNA or invasive karyotyping in high-risk cases. Primary Endpoint: Negative predictive value (NPV), ROC-AUC, sensitivity/specificity for aneuploidy detection. Secondary Endpoints: Rate of invasive testing, performance in combined models with cfDNA and biophysical markers, Net Reclassification Index. Duration: 5 months (08/2025 - 01/2026). Potential Impact: If validated, the rapid emptying phenotype may serve as a low-risk marker, reduce unnecessary invasive procedures, and refine first-trimester screening algorithms.

Conditions

Chromosomal Aneuploidies (e.g., Trisomy 21, Trisomy 18, Trisomy 13); Prenatal Screening Accuracy

Keywords

First-trimester screening Chromosomal abnormalities Prenatal diagnosis Ultrasound Negative predictive value (NPV) Fetal bladder

Outcome Measures

Primary Outcomes (1)

• Negative Predictive Value (NPV) of Rapid Fetal Bladder Emptying for Detecting Major Chromosomal Aneuploidy

  Proportion of fetuses with the rapid-emptying phenotype (≤ 40-minute complete emptying + post-void longitudinal bladder diameter ≤ 2 mm) who are subsequently confirmed not to have a major chromosomal aneuploidy (Trisomy 21, 18, or 13) by cfDNA, invasive karyotype, or postnatal testing.

  From enrollment at 11 + 0 to 14 + 0 gestational weeks until definitive genetic result or delivery, whichever comes first (≈ 26 weeks).

Study Arms (2)

Pregnancies in which the fetal bladder empties completely within ≤ 40 minutes

Diagnostic Test: 40-Minute Real-Time First-Trimester Ultrasonography

Pregnancies in which the bladder does not meet the rapid-emptying criteria

Diagnostic Test: 40-Minute Real-Time First-Trimester Ultrasonography

Interventions

40-Minute Real-Time First-Trimester Ultrasonography DIAGNOSTIC_TEST

A one-time midsagittal ultrasound performed between 11 +0 and 14 +0 weeks. Bladder emptying time and post-void longitudinal bladder diameter are recorded. No invasive procedures are performed.

Pregnancies in which the bladder does not meet the rapid-emptying criteria; Pregnancies in which the fetal bladder empties completely within ≤ 40 minutes

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Prospective cohort of 270 consecutive healthy pregnant women with singleton fetuses, attending first-trimester screening (11 - 14 GA) at a tertiary perinatology center in Istanbul, Türkiye.

You may qualify if:

• Singleton, viable pregnancy between 11 + 0 and 14 + 0 gestational weeks (GA)
• Maternal age 18 - 45 years at enrollment
• Able to provide written informed consent

You may not qualify if:

• Multiple gestation (twins, higher order)
• Major fetal structural anomaly detected at index scan
• Known serious maternal comorbidity (e.g., insulin-dependent diabetes, uncontrolled hypertension, renal or autoimmune disease)
• Participation in another interventional research study during the current pregnancy

Sponsors & Collaborators

• Haseki Training and Research Hospital: lead

Study Sites (1)

SBÜ Haseki Training and Research Hospital - Perinatology Department

Istanbul, Istanbul (Sultangazi District), 34265, Turkey (Türkiye)

Location

Related Publications (7)

• Capone V, Persico N, Berrettini A, Decramer S, De Marco EA, De Palma D, Familiari A, Feitz W, Herthelius M, Kazlauskas V, Liebau M, Manzoni G, Maternik M, Mosiello G, Schanstra JP, Vande Walle J, Wuhl E, Ylinen E, Zurowska A, Schaefer F, Montini G. Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group. Nat Rev Urol. 2022 May;19(5):295-303. doi: 10.1038/s41585-022-00563-8. Epub 2022 Feb 8.

  PMID: 35136187 BACKGROUND

• Arasaratnam M, Balakrishnar B, Crumbaker M, Turner S, Hayden AJ, Brooks A, Patel MI, Lau H, Woo H, Bariol S, Gurney H. Patterns of care and outcomes of men with germ cell tumors in a high-volume Australian center. Asia Pac J Clin Oncol. 2022 Apr;18(2):e23-e31. doi: 10.1111/ajco.13548. Epub 2021 Jun 21.

  PMID: 34152083 BACKGROUND

• Muller K, Kufner K, Prange K, Bengel J. [Screening for Anxiety in People with an Intellectual Disability: German Version of the "Glasgow Anxiety Scale for People with an Intellectual Disability" (GAS-ID)]. Psychiatr Prax. 2019 Jul;46(5):274-280. doi: 10.1055/a-0843-3373. Epub 2019 Mar 19. German.

  PMID: 30891726 BACKGROUND

• Zhu R, Lv W, Sun C, Qin C, Zhang D, Long Z. A facile strategy to fabricate high-barrier, water- and oil-repellent paper with carboxymethyl cellulose/collagen fiber/modified polyvinyl alcohol. Carbohydr Polym. 2023 Aug 15;314:120933. doi: 10.1016/j.carbpol.2023.120933. Epub 2023 Apr 20.

  PMID: 37173031 BACKGROUND

• Savarese JJ, Tabler NG Jr. Multimodal analgesia as an alternative to the risks of opioid monotherapy in surgical pain management. J Healthc Risk Manag. 2017 Jul;37(1):24-30. doi: 10.1002/jhrm.21262.

  PMID: 28719091 BACKGROUND

• Chasserant P, Gosgnach M. Improvement of peri-operative patient management to enable outpatient colectomy. J Visc Surg. 2016 Nov;153(5):333-337. doi: 10.1016/j.jviscsurg.2016.07.006. Epub 2016 Sep 23.

  PMID: 27671006 BACKGROUND

• Lesieur E, Barrois M, Bourdon M, Blanc J, Loeuillet L, Delteil C, Torrents J, Bretelle F, Grange G, Tsatsaris V, Anselem O. Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes. PLoS One. 2021 Sep 7;16(9):e0255890. doi: 10.1371/journal.pone.0255890. eCollection 2021.

  PMID: 34492029 BACKGROUND

MeSH Terms

Conditions

Down Syndrome; Trisomy 18 Syndrome; Trisomy 13 Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 270 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Fellow at Perinatology department

Study Record Dates

• First Submitted: September 3, 2025
• First Posted: September 10, 2025
• Study Start: August 28, 2025
• Primary Completion: October 31, 2025
• Study Completion: January 30, 2026
• Last Updated: September 10, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: De-identified IPD, çalışma protokolü, SAP ve boş ICF; ana sonuçların hakemli dergide yayımlanmasından itibaren 12 ay içinde erişime açılacak ve 5 yıl süreyle paylaşılabilir olacaktır (yaklaşık Temmuz 2027 - Temmuz 2032).

Locations

TU (1)